|
rs63751438
|
|
Alzheimer's Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
One is a full-length tau carrying a double mutation [P301S/G335D; line 66 (L66)] and the second is a truncated 3-repeat tau fragment which constitutes the bulk of the PHF core in AD corresponding to residues 296-390 fused with a signal sequence targeting it to the endoplasmic reticulum membrane (line 1; L1).
|
25523019 |
2015 |
|
rs63751438
|
|
Alzheimer's Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
We have reported previously a tau transgenic mouse model (Tg30tau) overexpressing human 4R1N double-mutant tau (P301S and G272V) and that develops AD (Alzheimer's disease)-like NFTs (neurofibrillary tangles) in an age-dependent manner.
|
20658993 |
2010 |
|
rs63750570
|
|
Alzheimer's Disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
The biochemical similarity between paired helical filament tau in AD and <i>MAPT</i> V337M predicts that the tau pathology associated with this mutation constitutes a compelling target for [<sup>18</sup>F]AV1451 imaging.
|
28130473 |
2017 |
|
rs63750570
|
|
Alzheimer's Disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
In a "combined" model, expressing both tau(V337M) and the familial amyloid precursor protein AD mutation APP(V717I) in a CT100 fragment, age-dependent tau phosphorylation occurred at the same sites and was significantly augmented compared to "single" tau(V337M) mice.
|
15601849 |
2005 |
|
rs63750570
|
|
Alzheimer's Disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
Conditional expression systems for 4-repeat wild-type (WT) tau or the corresponding mutants V337M and R406W were established in human neuroglioma H4 cells to study the effect of tau mutations on the physicochemical properties of tau, and to develop a cellular model for the formation of filamentous tau characteristic of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and Alzheimer's disease.
|
12414518 |
2002 |
|
rs63750570
|
|
Alzheimer's Disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
The conclusion is that the type and distribution of tau deposits in HFTD1 and HFTD2, the physical structure of filaments, and tau isoform composition in HFTD1 differ from Alzheimer's disease and an FTDP-17 family with a V337M mutation in the tau gene.
|
9811325 |
1998 |
|
rs242557
|
|
Alzheimer's Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
The proposed sensor, carried out on microfluidic chemiluminescence (CL) assay, can sensitively discriminate rs242557 hotspot-SNP, the A/G single-nucleotide variation on human chromosome associated with Alzheimer's disease, with an absolute detection limit of 0.3 fmol.
|
28340771 |
2017 |
|
rs242557
|
|
Alzheimer's Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
A significant association of SNP rs242557 with AD risk was found in a dominant [odds ratio (OR) = 1.05, 95% confidence interval (CI) = 1.01, 1.10, P = 0.025] genetic model, and a suggestive association in an allelic (OR = 1.03, 95% CI = 1.00, 1.06, P = 0.078).
|
28415654 |
2017 |
|
rs242557
|
|
Alzheimer's Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
Published studies revealed that the microtubule-associated protein tau (MAPT) gene polymorphisms increased Alzheimer's disease (AD) risk; the associations of 4 single nucleotide polymorphisms (SNPs, rs242557G/A, rs2471738C/T, rs3785883G/A and rs1467967A/G) of the MAPT gene with AD risk, however, remain inconclusive.
|
28415654 |
2017 |
|
rs242557
|
|
Alzheimer's Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
This study demonstrated that different variants in MAPT were associated with AD (rs2471738: OR= 1.04, 95%CI = 1.00 - 1.09; H2: OR = 0.94, 95% CI = 0.91 - 0.97), PD (H2: OR = 0.76, 95% CI = 0.74 - 0.79), PSP (rs242557: OR = 1.96, 95% CI = 1.71 - 2.25; rs2471738: OR = 1.85, 95% CI = 1.
|
28402959 |
2017 |
|
rs242557
|
|
Alzheimer's Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
In both European study and our study, the SNP rs242557 showed association with AD.
|
24923570 |
2015 |
|
rs242557
|
|
Alzheimer's Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
SNCA rs356165 and the MAPT H1 specific SNP rs242557 did not associate with AD or LB pathology.
|
22291217 |
2012 |
|
rs242557
|
|
Alzheimer's Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
In a case-control study of 300 AD patients and 360 healthy controls, we examined whether the combined gene effects between HO-1 (-413, rs2071746) and tau (5' of exon 1, rs242557) polymorphisms might be responsible for susceptibility to AD.
|
18841019 |
2008 |
|
rs143624519
|
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
A novel variant in MAPT resulting in an alanine to threonine substitution at position 152 (A152T tau) has recently been described as a significant risk factor for both frontotemporal lobar degeneration and Alzheimer's disease.
|
30590647 |
2019 |
|
rs143624519
|
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
Pathogenic mutations in the tau gene (microtubule associated protein tau, MAPT) are linked to the onset of tauopathy, but the A152T variant is unique in acting as a risk factor for a range of disorders including Alzheimer's disease (AD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and dementia with Lewy bodies (DLB).
|
30674342 |
2019 |
|
rs143624519
|
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
A recently identified Tau variant, p.A152T, has been reported as a risk factor for frontotemporal dementia-related disorders and Alzheimer disease.
|
29894752 |
2018 |
|
rs143624519
|
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
The A152T-variant of human tau (hTau-A152T) increases the risk of Alzheimer's disease (AD) and several other tauopathies.
|
29859869 |
2018 |
|
rs143624519
|
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
MAPT p.A152T was borderline significantly associated with FTD [odds ratio (OR) = 2.03; p = 0.063], but not with AD.
|
26444794 |
2016 |
|
rs143624519
|
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
Overall, our findings suggest that MAPT p.A152T is a rare low penetrance variant likely associated with DLB that may be influenced by coexisting LBD and AD pathology.
|
26333800 |
2015 |
|
rs143624519
|
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
Thus, MAPT p.A152T is associated with a variety of FTD spectrum clinical presentations, although patients with clinical AD are also identified.
|
23518664 |
2014 |
|
rs143624519
|
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
These data provide both the first genetic evidence and functional studies supporting the role of MAPT p.A152T as a rare risk factor for both FTD-s and AD and the concept that rare variants can increase the risk for relatively common, complex neurodegenerative diseases, but since no clear significance threshold for rare genetic variation has been established, some caution is warranted until the findings are further replicated.
|
22556362 |
2012 |
|
rs63750424
|
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
The R406W tau mutation is a unique missense mutation whose patients have been reported to exhibit Alzheimer's disease (AD)-like phenotypes rather than the more typical FTD phenotypes.
|
31543469 |
2019 |
|
rs63750424
|
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
Carbazole and 2-arylquinoline binding was only observed in cases with Alzheimer's disease and one case with frontotemporal dementia and parkinsonism linked to chromosome 17 exhibiting a R406W MAPT mutation.
|
29716656 |
2018 |
|
rs63750424
|
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
The MAPT c.1216C > T (p.Arg406Trp; R406W) mutation is a known cause of frontotemporal dementia with Parkinsonism linked to chromosome 17 tau with Alzheimer's disease-like clinical features.
|
29370822 |
2018 |
|
rs63750424
|
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
Among different MAPT mutations, the R406W mutation has been reported with a phenotype resembling Alzheimer's disease.
|
26086902 |
2015 |